Skin in Osteogenesis Imperfecta

The Stimulating Effect of Rosmarinic Acid and Extracts from Rosemary and Lemon Balm on Collagen Type I Biosynthesis in Osteogenesis Imperfecta Type I Skin Fibroblasts

“…These mutations are known as quantitative in contrary to those which alter the amino acid sequence of type I collagen α chains and are called structural mutations [ 24 , 25 , 26 , 27 ]. The most common structural mutations are glycine substitutions in the triple helical domain of the α1 or α2 chains, which give the wide range of phenotypic severity from mild to lethal [ 23 , 24 , 25 , 26 , 27 , 28 , 29 ]. The quantitative and structural mutations affecting collagen type I have consequences in all tissues that produce this protein, however, the easy to obtain patients’ skin fibroblasts are the cell type commonly used for molecular testing.…”

“…The greatest amount of collagen type I is found in skin, tendons, ligaments, bones, teeth, and the cornea [ 30 ]. Clinical symptoms commonly observed in OI patients include, in addition to abnormal bone formation and fragility, growth deficiency, blue or gray sclera, hearing loss, joint laxity, muscle weakness, dentinogenesis imperfecta, valvular regurgitation, and impaired pulmonary function [ 25 , 26 , 27 , 28 , 29 ]. In the skin collagen type I accounts for about 85–90% of the total collagen, the rest is collagen type III accounting for 10–15% and small amounts of dermal collagen are types IV, V, VI, and VII [ 30 , 31 ].…”

“…The fingerprints of the analyzed extracts were established using LC-PDA-MS method. The analysis revealed constituents comprising polyphenols as caffeic acid derivatives (14,24), flavonoids such as luteolin (7,8,16,20,22,23) and apigenin (10, 25) derivatives, respectively, and related compounds such as diterpenes (29,31,32). The LC-MS analysis is summarized in Table 2, Figure 2 and Figure 3.…”

“…Currently, the classification has expanded to 20 types due to the discovery of many other causative genes related more or less closely to collagen type I biosynthesis, modification, secretion or processing [ 25 , 26 , 27 ]. Although OI is primarily a bone disease, extra-skeletal defects are described in several patients [ 25 , 26 , 27 , 28 , 29 ]. Abnormalities of collagen type I may manifest as excessive mobility of ligaments, skin fragility, muscle weakness, hearing loss, and dentinogenesis imperfecta.…”

“…Collagen is the main component of the skin extracellular matrix (ECM) as it constitutes 75% of the dry weight of the skin, and type I collagen accounts for 80 to 90% of the total collagens [ 30 , 31 ]. Due to the significant role of this protein in the skin, it acts as a scaffold and is responsible for mechanical strength; decreasing collagen biosynthesis by approximately 50% in OI type I may be associated with impairment of mechanical properties of the tissue disrupting its proper structure and function [ 28 , 29 ]. Therefore, increasing biosynthesis of collagen type I could at least partially restore the proper composition of the skin ECM and improve its properties in this disease and likely have beneficial effects on bone as well, considering the high amount of collagen type I in this tissue.…”